Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17625 single nucleotide variant NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) 28940575 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122762 18122762 A T 17625 single nucleotide variant NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) 28940575 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122531 18122531 A T 17626 single nucleotide variant NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) 28940576 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122633 18122633 G C 17626 single nucleotide variant NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) 28940576 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122402 18122402 G C 17627 deletion NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) 587776542 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122369 18122370 CT - 17627 deletion NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) 587776542 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122138 18122139 CT - 17628 deletion NM_198586.2(NHLRC1):c.992delG (p.Gly331Glufs) 587776543 MedGen:C1850764 6 18121846 18121846 C - 17628 deletion NM_198586.2(NHLRC1):c.992delG (p.Gly331Glufs) 587776543 MedGen:C1850764 6 18121615 18121615 C - 17629 single nucleotide variant NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter) 121917875 MedGen:C1850764 6 18122045 18122045 G A 17629 single nucleotide variant NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter) 121917875 MedGen:C1850764 6 18121814 18121814 G A 17630 single nucleotide variant NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) 121917876 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122245 18122245 A T 17630 single nucleotide variant NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) 121917876 MedGen:C1850764;MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122014 18122014 A T 17631 single nucleotide variant NM_198586.2(NHLRC1):c.923A>C (p.Asp308Ala) 137852859 MedGen:C1850764 6 18121915 18121915 T G 17631 single nucleotide variant NM_198586.2(NHLRC1):c.923A>C (p.Asp308Ala) 137852859 MedGen:C1850764 6 18121684 18121684 T G 135212 single nucleotide variant NM_198586.2(NHLRC1):c.312T>C (p.His104=) 115931931 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122526 18122526 A G 135212 single nucleotide variant NM_198586.2(NHLRC1):c.312T>C (p.His104=) 115931931 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122295 18122295 A G 135213 single nucleotide variant NM_198586.2(NHLRC1):c.332C>T (p.Pro111Leu) 10949483 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122506 18122506 G A 135213 single nucleotide variant NM_198586.2(NHLRC1):c.332C>T (p.Pro111Leu) 10949483 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122275 18122275 G A 135214 single nucleotide variant NM_198586.2(NHLRC1):c.973G>A (p.Val325Met) 587780400 MedGen:CN221809 6 18121865 18121865 C T 135214 single nucleotide variant NM_198586.2(NHLRC1):c.973G>A (p.Val325Met) 587780400 MedGen:CN221809 6 18121634 18121634 C T 142225 single nucleotide variant NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) 187783545 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122535 18122535 C A 142225 single nucleotide variant NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) 187783545 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122304 18122304 C A 172294 single nucleotide variant NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) 769301934 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122402 18122402 C T 172294 single nucleotide variant NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) 769301934 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN221809 6 18122171 18122171 C T 176972 single nucleotide variant NM_198586.2(NHLRC1):c.32C>A (p.Ala11Glu) 139029314 MedGen:CN169374 6 18122575 18122575 G T 176972 single nucleotide variant NM_198586.2(NHLRC1):c.32C>A (p.Ala11Glu) 139029314 MedGen:CN169374 6 18122806 18122806 G T 190681 single nucleotide variant NM_198586.2(NHLRC1):c.664G>T (p.Glu222Ter) 794726964 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122174 18122174 C A 190681 single nucleotide variant NM_198586.2(NHLRC1):c.664G>T (p.Glu222Ter) 794726964 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121943 18121943 C A 190682 single nucleotide variant NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) 146636139 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122792 18122792 T C 190682 single nucleotide variant NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) 146636139 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783;MedGen:CN169374 6 18122561 18122561 T C 201949 single nucleotide variant NM_198586.2(NHLRC1):c.1142A>G (p.Asp381Gly) 200201752 MedGen:CN221809 6 18121696 18121696 T C 201949 single nucleotide variant NM_198586.2(NHLRC1):c.1142A>G (p.Asp381Gly) 200201752 MedGen:CN221809 6 18121465 18121465 T C 201950 single nucleotide variant NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) 78324544 MedGen:CN169374 6 18121747 18121747 G A 201950 single nucleotide variant NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) 78324544 MedGen:CN169374 6 18121516 18121516 G A 201951 single nucleotide variant NM_198586.2(NHLRC1):c.1090T>A (p.Ser364Thr) 370044232 MedGen:CN169374 6 18121748 18121748 A T 201951 single nucleotide variant NM_198586.2(NHLRC1):c.1090T>A (p.Ser364Thr) 370044232 MedGen:CN169374 6 18121517 18121517 A T 201952 single nucleotide variant NM_198586.2(NHLRC1):c.1072A>C (p.Met358Leu) 765443391 MedGen:CN169374 6 18121766 18121766 T G 201952 single nucleotide variant NM_198586.2(NHLRC1):c.1072A>C (p.Met358Leu) 765443391 MedGen:CN169374 6 18121535 18121535 T G 201953 single nucleotide variant NM_198586.2(NHLRC1):c.969C>T (p.Ser323=) 142941035 MedGen:CN169374 6 18121869 18121869 G A 201953 single nucleotide variant NM_198586.2(NHLRC1):c.969C>T (p.Ser323=) 142941035 MedGen:CN169374 6 18121638 18121638 G A 201954 single nucleotide variant NM_198586.2(NHLRC1):c.805G>A (p.Val269Met) 140164729 MedGen:CN169374 6 18122033 18122033 C T 201954 single nucleotide variant NM_198586.2(NHLRC1):c.805G>A (p.Val269Met) 140164729 MedGen:CN169374 6 18121802 18121802 C T 201955 single nucleotide variant NM_198586.2(NHLRC1):c.791C>G (p.Pro264Arg) 796052756 MedGen:CN169374 6 18121816 18121816 G C 201955 single nucleotide variant NM_198586.2(NHLRC1):c.791C>G (p.Pro264Arg) 796052756 MedGen:CN169374 6 18122047 18122047 G C 201956 single nucleotide variant NM_198586.2(NHLRC1):c.681T>A (p.Asn227Lys) 140850172 MedGen:CN169374 6 18122157 18122157 A T 201956 single nucleotide variant NM_198586.2(NHLRC1):c.681T>A (p.Asn227Lys) 140850172 MedGen:CN169374 6 18121926 18121926 A T 201957 single nucleotide variant NM_198586.2(NHLRC1):c.551A>G (p.Asn184Ser) 138667242 MedGen:CN169374 6 18122287 18122287 T C 201957 single nucleotide variant NM_198586.2(NHLRC1):c.551A>G (p.Asn184Ser) 138667242 MedGen:CN169374 6 18122056 18122056 T C 201958 single nucleotide variant NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) 148907696 MedGen:CN169374 6 18122325 18122325 G A 201958 single nucleotide variant NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) 148907696 MedGen:CN169374 6 18122094 18122094 G A 201959 single nucleotide variant NM_198586.2(NHLRC1):c.478T>C (p.Cys160Arg) 200595273 MedGen:CN169374 6 18122360 18122360 A G 201959 single nucleotide variant NM_198586.2(NHLRC1):c.478T>C (p.Cys160Arg) 200595273 MedGen:CN169374 6 18122129 18122129 A G 201960 single nucleotide variant NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) 143537405 MedGen:CN169374 6 18122416 18122416 A G 201960 single nucleotide variant NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) 143537405 MedGen:CN169374 6 18122185 18122185 A G 201961 single nucleotide variant NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) 750465793 MedGen:CN221809 6 18122221 18122221 G T 201961 single nucleotide variant NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) 750465793 MedGen:CN221809 6 18122452 18122452 G T 201962 single nucleotide variant NM_198586.2(NHLRC1):c.319G>A (p.Ala107Thr) 796052755 MedGen:CN169374 6 18122288 18122288 C T 201962 single nucleotide variant NM_198586.2(NHLRC1):c.319G>A (p.Ala107Thr) 796052755 MedGen:CN169374 6 18122519 18122519 C T 201963 deletion NM_198586.2(NHLRC1):c.226delC (p.Arg76Glyfs) 796052758 MedGen:CN221809 6 18122612 18122612 G - 201963 deletion NM_198586.2(NHLRC1):c.226delC (p.Arg76Glyfs) 796052758 MedGen:CN221809 6 18122381 18122381 G - 201964 single nucleotide variant NM_198586.2(NHLRC1):c.185G>A (p.Arg62His) 796052754 MedGen:CN169374 6 18122653 18122653 C T 201964 single nucleotide variant NM_198586.2(NHLRC1):c.185G>A (p.Arg62His) 796052754 MedGen:CN169374 6 18122422 18122422 C T 201965 single nucleotide variant NM_198586.2(NHLRC1):c.103C>G (p.His35Asp) 752045674 MedGen:CN169374 6 18122735 18122735 G C 201965 single nucleotide variant NM_198586.2(NHLRC1):c.103C>G (p.His35Asp) 752045674 MedGen:CN169374 6 18122504 18122504 G C 201966 single nucleotide variant NM_198586.2(NHLRC1):c.58G>A (p.Glu20Lys) 796052753 MedGen:CN169374 6 18122780 18122780 C T 201966 single nucleotide variant NM_198586.2(NHLRC1):c.58G>A (p.Glu20Lys) 796052753 MedGen:CN169374 6 18122549 18122549 C T 201967 single nucleotide variant NM_198586.2(NHLRC1):c.52G>C (p.Glu18Gln) 771805307 MedGen:CN169374 6 18122786 18122786 C G 201967 single nucleotide variant NM_198586.2(NHLRC1):c.52G>C (p.Glu18Gln) 771805307 MedGen:CN169374 6 18122555 18122555 C G 201968 indel NM_198586.2(NHLRC1):c.4_5delGCinsAA (p.Ala2Lys) 796052757 MedGen:CN169374 6 18122833 18122834 GC TT 201968 indel NM_198586.2(NHLRC1):c.4_5delGCinsAA (p.Ala2Lys) 796052757 MedGen:CN169374 6 18122602 18122603 GC TT 201969 single nucleotide variant NM_198586.2(NHLRC1):c.-35G>T 368401597 MedGen:CN169374 6 18122872 18122872 C A 201969 single nucleotide variant NM_198586.2(NHLRC1):c.-35G>T 368401597 MedGen:CN169374 6 18122641 18122641 C A 201970 single nucleotide variant NM_198586.2(NHLRC1):c.-36G>C 763144619 MedGen:CN169374 6 18122873 18122873 C G 201970 single nucleotide variant NM_198586.2(NHLRC1):c.-36G>C 763144619 MedGen:CN169374 6 18122642 18122642 C G 264259 deletion NM_198586.2(NHLRC1):c.468delA (p.Gly158Glufs) 757954108 MedGen:CN221809 6 18122370 18122370 T - 264259 deletion NM_198586.2(NHLRC1):c.468delA (p.Gly158Glufs) 757954108 MedGen:CN221809 6 18122139 18122139 T - 271224 single nucleotide variant NM_198586.2(NHLRC1):c.153C>G (p.Cys51Trp) 886043541 MedGen:CN169374 6 18122685 18122685 G C 271224 single nucleotide variant NM_198586.2(NHLRC1):c.153C>G (p.Cys51Trp) 886043541 MedGen:CN169374 6 18122454 18122454 G C 273612 single nucleotide variant NM_198586.2(NHLRC1):c.740C>T (p.Ala247Val) 367906378 MedGen:CN169374 6 18122098 18122098 G A 273612 single nucleotide variant NM_198586.2(NHLRC1):c.740C>T (p.Ala247Val) 367906378 MedGen:CN169374 6 18121867 18121867 G A 299623 deletion NM_198586.2(NHLRC1):c.*358_*361delAGTA 550375620 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121058 18121061 TACT - 299623 deletion NM_198586.2(NHLRC1):c.*358_*361delAGTA 550375620 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121289 18121292 TACT - 299625 single nucleotide variant NM_198586.2(NHLRC1):c.*326C>T 369668171 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121093 18121093 G A 299625 single nucleotide variant NM_198586.2(NHLRC1):c.*326C>T 369668171 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121324 18121324 G A 299626 single nucleotide variant NM_198586.2(NHLRC1):c.*320G>A 79197160 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121099 18121099 C T 299626 single nucleotide variant NM_198586.2(NHLRC1):c.*320G>A 79197160 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121330 18121330 C T 299631 single nucleotide variant NM_198586.2(NHLRC1):c.*237T>C 73379118 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121182 18121182 A G 299631 single nucleotide variant NM_198586.2(NHLRC1):c.*237T>C 73379118 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121413 18121413 A G 302191 single nucleotide variant NM_198586.2(NHLRC1):c.*837G>A 536257194 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120582 18120582 C T 302191 single nucleotide variant NM_198586.2(NHLRC1):c.*837G>A 536257194 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120813 18120813 C T 302192 single nucleotide variant NM_198586.2(NHLRC1):c.*797A>G 886061250 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120622 18120622 T C 302192 single nucleotide variant NM_198586.2(NHLRC1):c.*797A>G 886061250 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120853 18120853 T C 302197 single nucleotide variant NM_198586.2(NHLRC1):c.*406A>G 886061251 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121013 18121013 T C 302197 single nucleotide variant NM_198586.2(NHLRC1):c.*406A>G 886061251 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121244 18121244 T C 302202 single nucleotide variant NM_198586.2(NHLRC1):c.*336G>A 10949482 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121083 18121083 C T 302202 single nucleotide variant NM_198586.2(NHLRC1):c.*336G>A 10949482 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121314 18121314 C T 302206 single nucleotide variant NM_198586.2(NHLRC1):c.*248C>G 182779486 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121171 18121171 G C 302206 single nucleotide variant NM_198586.2(NHLRC1):c.*248C>G 182779486 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121402 18121402 G C 302222 single nucleotide variant NM_198586.2(NHLRC1):c.1076T>A (p.Val359Asp) 372993582 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121531 18121531 A T 302222 single nucleotide variant NM_198586.2(NHLRC1):c.1076T>A (p.Val359Asp) 372993582 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121762 18121762 A T 302223 single nucleotide variant NM_198586.2(NHLRC1):c.397G>A (p.Ala133Thr) 886061254 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122210 18122210 C T 302223 single nucleotide variant NM_198586.2(NHLRC1):c.397G>A (p.Ala133Thr) 886061254 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122441 18122441 C T 306566 single nucleotide variant NM_198586.2(NHLRC1):c.*875T>C 72839174 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120544 18120544 A G 306566 single nucleotide variant NM_198586.2(NHLRC1):c.*875T>C 72839174 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120775 18120775 A G 306575 single nucleotide variant NM_198586.2(NHLRC1):c.*875T>A 72839174 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120544 18120544 A T 306575 single nucleotide variant NM_198586.2(NHLRC1):c.*875T>A 72839174 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120775 18120775 A T 306576 single nucleotide variant NM_198586.2(NHLRC1):c.*720T>C 141863990 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120699 18120699 A G 306576 single nucleotide variant NM_198586.2(NHLRC1):c.*720T>C 141863990 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120930 18120930 A G 306579 single nucleotide variant NM_198586.2(NHLRC1):c.*662C>G 150615281 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120757 18120757 G C 306579 single nucleotide variant NM_198586.2(NHLRC1):c.*662C>G 150615281 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120988 18120988 G C 306580 single nucleotide variant NM_198586.2(NHLRC1):c.*621T>A 10949481 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120798 18120798 A T 306580 single nucleotide variant NM_198586.2(NHLRC1):c.*621T>A 10949481 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121029 18121029 A T 306581 single nucleotide variant NM_198586.2(NHLRC1):c.*344A>T 147528518 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121075 18121075 T A 306581 single nucleotide variant NM_198586.2(NHLRC1):c.*344A>T 147528518 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121306 18121306 T A 306586 single nucleotide variant NM_198586.2(NHLRC1):c.*332G>T 140122442 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121087 18121087 C A 306586 single nucleotide variant NM_198586.2(NHLRC1):c.*332G>T 140122442 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121318 18121318 C A 306593 single nucleotide variant NM_198586.2(NHLRC1):c.*276G>C 11966748 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121143 18121143 C G 306593 single nucleotide variant NM_198586.2(NHLRC1):c.*276G>C 11966748 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121374 18121374 C G 306594 single nucleotide variant NM_198586.2(NHLRC1):c.*85T>A 73379121 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121334 18121334 A T 306594 single nucleotide variant NM_198586.2(NHLRC1):c.*85T>A 73379121 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121565 18121565 A T 306603 single nucleotide variant NM_198586.2(NHLRC1):c.*61C>A 886061252 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121358 18121358 G T 306603 single nucleotide variant NM_198586.2(NHLRC1):c.*61C>A 886061252 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121589 18121589 G T 306608 single nucleotide variant NM_198586.2(NHLRC1):c.*55G>C 11966789 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121595 18121595 C G 306608 single nucleotide variant NM_198586.2(NHLRC1):c.*55G>C 11966789 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121364 18121364 C G 306610 single nucleotide variant NM_198586.2(NHLRC1):c.541A>G (p.Thr181Ala) 886061253 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122066 18122066 T C 306610 single nucleotide variant NM_198586.2(NHLRC1):c.541A>G (p.Thr181Ala) 886061253 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18122297 18122297 T C 306863 single nucleotide variant NM_198586.2(NHLRC1):c.*626C>T 10949480 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120793 18120793 G A 306863 single nucleotide variant NM_198586.2(NHLRC1):c.*626C>T 10949480 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121024 18121024 G A 306873 single nucleotide variant NM_198586.2(NHLRC1):c.*482C>G 114713758 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120937 18120937 G C 306873 single nucleotide variant NM_198586.2(NHLRC1):c.*482C>G 114713758 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121168 18121168 G C 306876 single nucleotide variant NM_198586.2(NHLRC1):c.*442G>C 555214908 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18120977 18120977 C G 306876 single nucleotide variant NM_198586.2(NHLRC1):c.*442G>C 555214908 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121208 18121208 C G 306878 single nucleotide variant NM_198586.2(NHLRC1):c.*248C>A 182779486 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121171 18121171 G T 306878 single nucleotide variant NM_198586.2(NHLRC1):c.*248C>A 182779486 MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:C0751783 6 18121402 18121402 G T 359745 single nucleotide variant NM_198586.2(NHLRC1):c.779A>G (p.His260Arg) 144043056 MedGen:CN169374 6 18121828 18121828 T C 359745 single nucleotide variant NM_198586.2(NHLRC1):c.779A>G (p.His260Arg) 144043056 MedGen:CN169374 6 18122059 18122059 T C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000187566.4 NHLRC1 608072